ABCB11 : ATP binding cassette subfamily B member 11
Description
The ABCB11 gene holds the blueprints for constructing a crucial protein called the bile salt export pump (BSEP). Residing within liver cells, this protein plays a pivotal role in the production and secretion of bile, a digestive fluid essential for breaking down fats. Once synthesized in the liver, bile salts are shepherded out of these cells by the BSEP, making their way into the bile. This export process is vital for the proper flow and function of bile, ensuring effective digestion and absorption of nutrients.
Associated Diseases
Mutations in the ABCB11 gene have been linked to a rare condition known as progressive familial intrahepatic cholestasis (PFIC), also called Byler disease. PFIC arises from impaired BSEP function, disrupting the normal export of bile salts from the liver. This disruption leads to their accumulation within the liver cells, causing progressive liver damage. PFIC can manifest differently depending on the specific mutation, with three main types:
- PFIC1 (Byler disease): The most severe form, characterized by liver failure in infancy or early childhood.
- PFIC2 (Byler disease): A milder form, often diagnosed later in life, with liver damage developing gradually.
- PFIC3 (Byler disease): The rarest form, typically presenting with mild liver disease or cholestasis in adulthood.
Did you Know ?
Approximately 1 in 50,000-100,000 people are affected by PFIC, making it a rare but potentially life-threatening condition.
